Muir-Torre Syndrome: Expanding the genotype and phenotype - A further family with a MSH6 mutation

Familial Cancer

Volumn 7, Issue 3, 2008, Pages 255-257

  Murphy, H R ^a   Armstrong, R ^a   Cairns, D ^b   Greenhalgh, K L ^a  

^a LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^b LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Extra colonic tumours; HNPCC; Inherited bowel cancer; MSH6 mutation; Muir Torre Syndrome; Sebaceous adenomas

Indexed keywords

PROTEIN MSH6;

ADULT; ARTICLE; CANCER PATIENT; CASE REPORT; DNA EXTRACTION; EXON; GENE MUTATION; GENOTYPE; HUMAN; MALE; MISMATCH REPAIR; MUIR TORRE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; TUBEROUS SCLEROSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA, SEBACEOUS; DNA MISMATCH REPAIR; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUIR-TORRE SYNDROME; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; RISK FACTORS;

EID: 48349118844     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-008-9183-y     Document Type: Article

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